Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.
作者信息
Oberholzer V G, Levin B, Burgess E A, Young W F
出版信息
Arch Dis Child. 1967 Oct;42(225):492-504. doi: 10.1136/adc.42.225.492.
Abstract
摘要
相似文献
1
Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.甲基丙二酸血症。一种导致慢性代谢性酸中毒的先天性代谢缺陷。
Arch Dis Child. 1967 Oct;42(225):492-504. doi: 10.1136/adc.42.225.492.
2
Methylmalonic aciduria. A newly discovered inborn error.甲基丙二酸尿症。一种新发现的先天性代谢缺陷病。
Ann Intern Med. 1968 Sep;69(3):633-5. doi: 10.7326/0003-4819-69-3-633_2.
3
Methylmalonic acidemia and vitamin B12 dependency.甲基丙二酸血症与维生素B12依赖症
Acta Paediatr Scand. 1970 Jan;59(1):88-9. doi: 10.1111/j.1651-2227.1970.tb15520.x.
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Response to dietary therapy in B 12 unresponsive methylmalonic acidemia.对维生素B12无反应的甲基丙二酸血症患者饮食疗法的反应
Pediatrics. 1973 Mar;51(3):539-48.
5
A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria.一种与高同型半胱氨酸血症、胱硫醚血症、低蛋氨酸血症和甲基丙二酸尿症相关的维生素B12代谢紊乱。
Am J Med. 1970 Mar;48(3):390-7. doi: 10.1016/0002-9343(70)90070-7.
6
Methylmalonic acid.甲基丙二酸
Pediatrics. 1973 Jun;51(6):1012-5.
7
[Metabolism of methylmalonic acid illustrated by a recently discovered inherited disease].[由一种最近发现的遗传性疾病所阐明的甲基丙二酸代谢]
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[Vitamin-B12-dependent methylmalonic acidemia in twins].[双胞胎中的维生素B12依赖性甲基丙二酸血症]
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Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.甲基丙二酸尿症。一种导致代谢性酸中毒、长链酮尿症和间歇性高甘氨酸血症的先天性疾病。
N Engl J Med. 1968 Jun 13;278(24):1319-22. doi: 10.1056/NEJM196806132782404.
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[Vitamin B 12 responsive methylmalenic aciduria. Apropos of a new case].[维生素B12反应性甲基丙二酸尿症。关于一例新病例]
Pediatrie. 1980 Apr-May;35(3):205-12.
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Utilization in vivo of glucose and volatile fatty acids by sheep brain for the synthesis of acidic amino acids.绵羊脑内葡萄糖和挥发性脂肪酸用于合成酸性氨基酸的体内利用。
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THE RENAL EXCRETION OF HYDROGEN IONS IN INFANTS AND CHILDREN.婴儿和儿童体内氢离子的肾脏排泄
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Methylmalonic acid excretion: an index of vitamin-B12 deficiency.甲基丙二酸排泄：维生素B12缺乏的一个指标。
Lancet. 1962 Oct 27;2(7261):853-6. doi: 10.1016/s0140-6736(62)90631-1.
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Methylmalonate excretion in a patient with pernicious anemia.恶性贫血患者的甲基丙二酸排泄情况。
N Engl J Med. 1963 Jan 17;268:144-6. doi: 10.1056/NEJM196301172680309.
6
Primary metabolic defect supervening on vitamin B12 deficiency in the sheep.绵羊维生素B12缺乏继发的原发性代谢缺陷。
Nature. 1961 Jun 17;190:1085-91. doi: 10.1038/1901085a0.
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Metabolism of propionic acid in animal tissues. III. Formation of succinate.动物组织中丙酸的代谢。III. 琥珀酸的形成。
J Biol Chem. 1957 Dec;229(2):997-1010.
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[Determination of organic acids in urine by paper chromatography].[用纸上色谱法测定尿液中的有机酸]
C R Hebd Seances Acad Sci. 1954 Jun 21;238(25):2459-61.
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A possible role for acetyl CoA in the control of gluconeogenesis.乙酰辅酶A在糖异生控制中的可能作用。
Adv Enzyme Regul. 1964;2:49-68. doi: 10.1016/s0065-2571(64)80005-4.
10
A method for the colorimetric determination of urinary methylmalonic acid in pernicious anemia.一种用于比色测定恶性贫血患者尿中甲基丙二酸的方法。
J Lab Clin Med. 1965 Oct;66(4):667-76.
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